Canonical Allele Identifier: CA2746071783

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346613T>A , CM000663.2:g.150346613T>A	GRCh38
NC_000001.10:g.150319089T>A , CM000663.1:g.150319089T>A	GRCh37
NC_000001.9:g.148585713T>A	NCBI36
NG_008245.1:g.30162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+122T>A MANE Select	ENSP00000315379.6:n.1843+122T>A
ENST00000324862.6:c.1843+122T>A	ENSP00000315379.6:n.1843+122T>A
ENST00000467329.5:n.2170+122T>A
ENST00000476970.1:n.952+122T>A
NM_004698.2:c.1843+122T>A	NP_004689.1:n.1843+122T>A
XM_011510128.1:c.1853+112T>A	XP_011508430.1:n.1853+112T>A
XM_011510129.1:c.1438+122T>A	XP_011508431.1:n.1438+122T>A
XM_011510130.1:c.1411+122T>A	XP_011508432.1:n.1411+122T>A
XR_241103.1:n.1826+122T>A
XR_921997.1:n.1836+112T>A
XR_921998.1:n.1940+122T>A
NM_001350529.1:c.1438+122T>A	NP_001337458.1:n.1438+122T>A
NM_004698.3:c.1843+122T>A	NP_004689.1:n.1843+122T>A
NR_146766.1:n.2074+122T>A
NR_146767.1:n.2170+122T>A
NR_146768.1:n.2026+112T>A
NR_146769.1:n.2079+112T>A
XM_011510130.3:c.1411+122T>A	XP_011508432.1:n.1411+122T>A
XM_017002790.1:c.1411+122T>A	XP_016858279.1:n.1411+122T>A
XR_001737536.2:n.1876+122T>A
XR_001737537.2:n.1990+122T>A
XR_001737540.2:n.2747+122T>A
XR_001737541.2:n.1770+122T>A
XR_002958009.1:n.2500+122T>A
XR_002958010.1:n.3746+112T>A
XR_002958012.1:n.1942+112T>A
XR_241103.3:n.1818+122T>A
XR_921997.3:n.1828+112T>A
XR_921998.3:n.1932+122T>A
NM_004698.4:c.1843+122T>A MANE Select	NP_004689.1:n.1843+122T>A